Varaico: Literature-Extracted Genetic Variants

MAPT

2,873 papers

RefSeq Summary

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differenti...

Pfam Domains

Tubulin-bindingaa 560–591UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 592–622UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 623–653UCSCTau and MAP protein, tubulin-binding repeat

Tubulin-bindingaa 654–685UCSCTau and MAP protein, tubulin-binding repeat

Gene Aliases

HGNC Name

microtubule associated protein tau

HGNC Previous Symbols

DDPAC; MAPTL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377265.1

p.E428A

c.1283A>C

Surrounding Variants

1 paper

NM_001377265.1

p.E428_P429insC

c.1282_1286ins3

6 papers

NM_001377265.1

p.P427L

c.1280C>T

1 paper

NM_001377265.1

p.P427A

c.1279C>G

1 paper

NM_001377265.1

p.E431K

c.1291G>A

1 paper

NM_001377265.1

p.E431A

c.1292A>C

1 paper

NM_001377265.1

p.K432Q

c.1294A>C

1 paper

NM_001377265.1

p.Q433E

c.1297C>G

4 papers

NM_001377265.1

p.Q433P

c.1298A>C

1 paper

NM_016835.5

p.E348G

c.1043A>G

2 papers

NM_001377265.1

p.E423delFs

c.1267delG

1 paper

NM_001377265.1

p.K422_E423insC

c.1264_1268ins3

1 paper

NM_001377265.1

p.T421T

c.1263A>G